Canonical Allele Identifier: CA010976
Gene: RYR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 201204
dbSNP Id: rs794728716

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.237417114T>C , CM000663.2:g.237417114T>C GRCh38
NC_000001.10:g.237580414T>C , CM000663.1:g.237580414T>C GRCh37
NC_000001.9:g.235647037T>C NCBI36
NG_008799.2:g.379713T>C
NG_008799.3:g.379931T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000609119.2:c.839T>C ENSP00000499659.2:p.Leu280Pro
ENST00000659194.3:c.839T>C ENSP00000499653.3:p.Leu280Pro
ENST00000660292.2:c.839T>C ENSP00000499787.2:p.Leu280Pro
ENST00000366574.7:c.839T>C MANE Select ENSP00000355533.2:p.Leu280Pro
ENST00000360064.7:c.791T>C ENSP00000353174.7:p.Leu264Pro
ENST00000366574.6:c.839T>C ENSP00000355533.2:p.Leu280Pro
NM_001035.2:c.839T>C NP_001026.2:p.Leu280Pro
XM_006711802.2:c.839T>C XP_006711865.1:p.Leu280Pro
XM_006711803.2:c.839T>C XP_006711866.1:p.Leu280Pro
XM_006711804.2:c.839T>C XP_006711867.1:p.Leu280Pro
XM_006711805.2:c.839T>C XP_006711868.1:p.Leu280Pro
XM_006711806.2:c.839T>C XP_006711869.1:p.Leu280Pro
XM_006711807.2:c.839T>C XP_006711870.1:p.Leu280Pro
XM_006711808.2:c.839T>C XP_006711871.1:p.Leu280Pro
XM_006711809.2:c.839T>C XP_006711872.1:p.Leu280Pro
XM_006711810.2:c.839T>C XP_006711873.1:p.Leu280Pro
XR_949152.1:n.1120T>C
XM_006711802.3:c.839T>C XP_006711865.1:p.Leu280Pro
XM_006711803.3:c.839T>C XP_006711866.1:p.Leu280Pro
XM_006711804.3:c.839T>C XP_006711867.1:p.Leu280Pro
XM_006711805.3:c.839T>C XP_006711868.1:p.Leu280Pro
XM_006711806.3:c.839T>C XP_006711869.1:p.Leu280Pro
XM_006711807.3:c.839T>C XP_006711870.1:p.Leu280Pro
XM_006711808.3:c.839T>C XP_006711871.1:p.Leu280Pro
XM_006711810.3:c.839T>C XP_006711873.1:p.Leu280Pro
XM_017002028.1:c.818T>C XP_016857517.1:p.Leu273Pro
XR_002957299.1:n.1153T>C
XR_949152.2:n.1153T>C
NM_001035.3:c.839T>C MANE Select NP_001026.2:p.Leu280Pro